A comparative study of structural variant calling strategies using the Alzheimer's Disease Sequencing Project's whole genome family data
John Stephen Malamon, John J. Farrell, Li Charlie Xia, Beth A. Dombroski, Wan‐Ping Lee, Gautami Das, Badri Narayan Vardarajan, Jessica Way, Amanda B Kuzma, Otto Valladares, Yuk Yee Leung, Allison J. Scanlon, Irving Barrera, Jack Brehony, Kim C. Worley, , Gerard D. Schellenberg
The paper evaluates deletion calling accuracy using two pipelines on ADSP whole genome family data, finding Scalpel better for small deletions and Parliament for larger ones, with 78.1% of predicted deletions validated by Sanger sequencing.
bioRxiv · May 19, 2022 · PreprintGenetics